Canonical Allele Identifier: CA2580614103

Gene: NF1

Linked Data

• ClinVar Variation Id: 1709551
• ClinVar RCV Id: RCV002289366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330503_31330506del , CM000679.2:g.31330503_31330506del	GRCh38
NC_000017.10:g.29657521_29657524del , CM000679.1:g.29657521_29657524del	GRCh37
NC_000017.9:g.26681647_26681650del	NCBI36
NG_009018.1:g.240527_240530del , LRG_214:g.240527_240530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2000+5_2000+8del
ENST00000696138.1:c.5794+5_5794+8del
ENST00000684826.1:c.376+5_376+8del
ENST00000687027.1:c.-33+5_-33+8del
ENST00000687863.1:n.2457+5_2457+8del
ENST00000691014.1:c.5842+5_5842+8del
ENST00000693617.1:c.376+5_376+8del
ENST00000358273.9:c.5812+5_5812+8del
ENST00000356175.7:c.5749+5_5749+8del
ENST00000358273.8:c.5812+5_5812+8del
ENST00000456735.6:c.4747+5_4747+8del
ENST00000479536.2:c.170+5_170+8del
ENST00000493220.5:n.4290_4293del
ENST00000579081.5:c.5948+5_5948+8del
ENST00000581113.6:n.1129+5_1129+8del
NM_000267.3:c.5749+5_5749+8del , LRG_214t1:c.5749+5_5749+8del
NM_001042492.2:c.5812+5_5812+8del , LRG_214t2:c.5812+5_5812+8del
XM_005257983.1:c.5812+5_5812+8del
XM_005257984.1:c.5749+5_5749+8del
XM_006721922.1:c.5842+5_5842+8del
XM_006721923.2:c.5803+5_5803+8del
XM_006721924.1:c.5842+5_5842+8del
XM_006721925.1:c.5779+5_5779+8del
XM_006721926.2:c.5842+5_5842+8del
XM_006721927.1:c.5842+5_5842+8del
XM_011524852.1:c.5839+5_5839+8del
XM_011524853.1:c.5803+5_5803+8del
XM_011524854.1:c.5803+5_5803+8del
XM_011524855.1:c.5803+5_5803+8del
XM_011524856.1:c.5803+5_5803+8del
XM_011524857.1:c.5842+5_5842+8del
NM_001042492.3:c.5812+5_5812+8del